File:5-year-old Mexican girl with Angelman syndrome.png
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[edit]Description5-year-old Mexican girl with Angelman syndrome.png |
English: 5-year-old Mexican girl with Angelman syndrome, pedigree chart on left, photographs of her symptomatic features -- face and hands -- on right.
Fig1: Available family members. A) Pedigree of the proband and her family; B) Proband (III-1) with telecanthus, bilateral epicanthal folds, wide mouth, and an apparently happy demeanor; hands with tapered fingers, abnormal creases and broad thumbs. A 5-year-old Mexican girl, first child of a healthy nonconsanguineous couple was evaluated. She was born at full term via caesarean section, which was indicated because of oligohydramnios detected in the last prenatal ultrasound; otherwise the pregnancy was uneventful. Her birth weight was 2800 g, length was 48 cm; Apgar score of 9. |
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Date | ||||
Source | Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization. | |||
Author | Yokoyama-Rebollar E, Ruiz-Herrera A, Lieberman-Hernández E, Del Castillo-Ruiz V, Sánchez-Sandoval S, Ávila-Flores SM, Castrillo JL - Mol Cytogenet (2015) | |||
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This file, which was originally posted to
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404657/, was reviewed on 30 March 2018 by reviewer Doc James, who confirmed that it was available there under the stated license on that date.
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